|
fibromatosis, gingival, with abnormal fingers, fingernails, nose and ears, and splenomegaly
|
C536725 |
|
|
Radial-ulnar hypoplasia with bone marrow failure and-or leukemia
|
C536751 |
|
|
C19orf12 neurodegeneration with brain iron accumulation
|
13674 |
|
|
familial keratoconus with cataract
|
13678 |
|
|
myopia, high, with cataract and vitreoretinal degeneration
|
13670 |
|
|
myopia, high, with cataract and vitreoretinal degeneration; MCVD
|
http://purl.obolibrary.org/obo/MONDO_0013670 |
|
|
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
C536790 |
|
|
sensory neuropathy with deafness and dementia
|
C536749 |
|
|
keratoconus, familial, with early-onset anterior polar cataract
|
13678 |
|
|
cone dystrophy with night blindness and supernormal rod responses, KCNV2-Related
|
C563678 |
|
|
epilepsy, familial, with nocturnal wandering and ictal fear
|
C563679 |
|
|
fatal infantile, with olivopontocerebellar hypoplasia encephalopathy
|
C536716 |
|
|
sensorineural deafness with pituitary dwarfism
|
C536710 |
|
|
endosteal hyperostosis worth type
|
C536748 |
|
